A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12696680



Internal ID6462803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22215068..22216017hg38UCSC Ensembl
Innerchr7:22215118..22215967hg38UCSC Ensembl
Outerchr7:22214986..22216099hg38UCSC Ensembl
chr7:22254687..22255636hg19UCSC Ensembl
Innerchr7:22254737..22255586hg19UCSC Ensembl
Outerchr7:22254605..22255718hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38950
hg19950
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612514
Supporting Variants
SamplesNA20517
Known GenesRAPGEF5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12696680
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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